G22C (p.Gly22Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G22C (p.Gly22Cys) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G22C (p.Gly22Cys) variant details
- p.Gly22Cys
- rs794728545
- ClinGen CA379115989
- ClinVar RCV003121692
- TOPMed rs794728545
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.41
- ESM-1b 0.28
- AlphaMissense 0.14
- MetaLR 0.89
- MetaSVM 0.86
- CADD 23.10
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)